Article
Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant.
Journal of child neurology - 1 Jan 2008
Giurgiutiu Dan-Victor, Espinoza Lesby M, Wood Tim C, DuPont Barbara R, Holden Kenton R
Abstract excerpt
The authors report the rare association of Prader-Willi syndrome and short-chain acyl-CoA dehydrogenase gene variant. Prader-Willi syndrome, associated with paternal chromosome 15q11-q13 silencing, is characterized by neonatal/infantile hypotonia, growth failure, and neurodevelopmental delays in the first 1 to 2 years of life, typically followed by hyperphagia and obesity. Short-chain acyl-CoA dehydrogenase gene...
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